Table 2.
Studies of ctDNA in ovarian cancer patients related to treatment response monitoring
| References | year | No of patients | Identified Abnormalities | Methodology |
|---|---|---|---|---|
| Gifford et al. [121] | 2004 | 138 | hMLH1 methylation | Microsatellite PCR |
| Swisher et al. [122] | 2005 | 137 | p53 mutation | DNA sequencing |
| Kamat et al. [123] | 2006 | – | Level | RT-PCR |
| Capizzi et al. [124] | 2008 | 22 | Level | RT-PCR |
| Kamat et al. [125] | 2010 | 164 | Beta-globin | RT-PCR |
| Wimberger et al. [126] | 2011 | 62 | Fluorimetry | Fluorescence |
| Forshew et al. [127] | 2012 | 38 | TP53. Other markers include PTEN, BRAF, KRAS, EGFR, PIK3CA | TAm-Seq, dPCR |
| Murtaza et al. [128] | 2013 | 3 | RB1, ZEB2, BUB1, CES4A, MTOR, PARP8 | NGS, qPCR |
| Choudhuri et al. [129] | 2014 | 100 | Level | RT-PCR |
| Martignetti et al. [130] | 2014 | 1 | FGFR2 fusion transcript | RT-PCR |
| Pereira et al. [131] | 2015 | 22 | TP53, PTEN, PIK3CA, MET, KRAS, FBXW7, BRAF | WES, ddPCR, TGS |
| Cohen et al. [132] | 2016 | 32 | CNV | WES |
| Harris et al. [133] | 2016 | 10 | Aberrant chromosomal junctions | RT-PCR |
| Piskorz et al. [134] | 2016 | 18 | TP53 mutation | NGS |
| Parkinson et al. [135] | 2016 | 40 | TP53 mutation | Digital PCR |
| Vanderstichele [136] | 2017 | 57 | CNV | WGS |
| Phallen et al. [137] | 2017 | 42 | 55 gene panel including TP53, KIT, ALK, APC, ERBB4 etc | NGS (TEC-Seq) and ddPCR |
| Flanagan et al. [138] | 2017 | 247 | Methylation at CpG sites | NGS |
| Widschwendter et al. [139] | 2017 | 151 | Regions linked to COL23A1, C2CD4D and WNT6 | TUC-BS & RRBS |
| Ratajska et al. [140] | 2017 | 121 | BRCA1/2 mutations | NGS |
| Christie et al. [141] | 2017 | 30 | BRCA reversion mutation | NGS |
| Weigelt et al. [116] | 2017 | 19 | BRCA reversion mutation | NGS |
| Giannopoulou et al. [142] | 2018 | 50 | ESR1 | RT-MSP |
| Du et al. [143] | 2018 | 21 | CNV and mutant genes including TP53, BRCA1, NOTCH2, DNMT3A etc | NGS |
| Morikawa et al. [107] | 2018 | 29 | KRAS and PIK3CA | ddPCR |
| Nakabayashi et al. [144] | 2018 | 36 | CNV | WGS |
| Park et al. [109] | 2018 | 4 | TP53 | ddPCR |
| Arend et al. [117] | 2018 | 14 | 50 gene panel | NGS |
| Lin et al. [145] | 2019 | 97 | BRCA reversion mutation, TP53 | NGS |
| Kim et al. [110] | 2019 | 102 | TP53 mutant allele | Sanger sequencing/Digital PCR |
| Oikkonen et al. [118] | 2019 | 12 | ERBB2 amplification | NGS |
| Iwahashi et al. [146] | 2019 | 4 | TP53, APC, BRCA1 and KRAS | CAPP-seq |
| Noguchi et al. [119] | 2020 | 10 | gene mutation profiles and blood tumor mutation burden | CAPP-seq |
| Han et al. [147] | 2020 | 10 | 88 genes panel | NGS |
| Alves et al. [148] | 2020 | 11 | Level | qPCR |
Abbreviations: NGS Next-generation sequencing, RT-PCR Reverse transcription polymerase chain reaction, dPCR droplet Polymerase chain reaction, qPCR Allele-specific quantitative PCR, RT-MSP Real-Time methylation specific PCR, CNV Copy number variation, WGS Whole genome sequencing, WES Whole exome sequencing, ddPCR Droplet digital PCR, TGS Targeted gene sequences, TAm-RSeq Targeted amplicon re-sequencing, RRBS Reduced representation bisulphite sequencing, TUC-BS Targeted ultra-high coverage bisulphite sequencing, CAPP-seq Cancer Personalized Profiling by deep Sequencing